Position_hg19 (chr:12) Reference Observed dbSNP_ID Transcript change Protein change Variant type Homozygote Count SA Heterozygote Count SA Total Allele Count Number of screenee MAF Saudi "Allele Frequency, AFR" "Allele Frequency, AMR " "Allele Frequency, ASJ " "Allele Frequency, EAS " "Allele Frequency, FIN " "Allele Frequency, NFE " "Allele Frequency, SAS " "Allele Frequency, GME " "Allele Frequency, Jordan" "Allele Frequency, Qatari " SA/AFR p-value SA/AMR p-value SA/ASJ p-value SA/EAS p-value SA/FIN p-value SA/NFE p-value SA/SAS p-value SA/GME p-value SA/Jordan p-value SA/Qatari p-value MAF (SA)/MAF_AFR MAF (SA)/MAF_AMR MAF (SA)/MAF_ASJ MAF (SA)/MAF_EAS MAF (SA)/MAF_FIN MAF (SA)/MAF_NFE MAF (SA)/MAF_SAS MAF (SA)/KAVIAR MAF (SA)/GME MAF (SA)/Jordan MAF (SA)/Qatari ADME_Final SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred MetaSVM_score MetaSVM_pred CADD_phred KAVIAR (SA)/KAVIAR p-value 21329813 C A rs11045819 NM_006446:c.463C>A p.Pro155Thr Missense 90 1339 1519 11889 0.063882581 0.076222 0.070282 0.198327 0.000406 0.110432 0.163163 0.043258 0.104040 NA 0.070000 0.003809801 0.116769117 3.08012E-20 6.0235E-102 7.02672E-18 2.1268E-183 2.2127E-10 1.61588E-11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21331549 T C rs4149056 NM_006446:c.521T>C p.Val174Ala Missense 1139 4381 6659 11889 0.280048785 0.027190 0.111820 0.179532 0.124971 0.210914 0.155664 0.050654 0.177744 0.220000 0.238454 0 2.1441E-152 1.26585E-06 2.5424E-102 6.065E-16 3.7138E-183 0 1.23612E-27 0.003160837 0.004621307 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21358933 G C rs59502379 NM_006446:c.1463G>C p.Gly488Ala Missense 1 29 31 11889 0.001303726 0.036538 0.001464 0 0 0 0.000045 0 NA NA NA 3.93083E-79 0.95652581 0.923003264 0.012637529 0.034433251 7.13407E-08 0.00045256 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21329802 A G rs2306282 NM_006446:c.452A>G p.Asn151Ser Missense 0 2 2 11889 8.41114E-05 0 0 0 0.004468 0.000045 0.000009 0 NA NA NA 0.683611955 0.721792214 0.162111436 2.48606E-10 0.420013578 0.761949665 0.855708405 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21391976 A C rs34671512 NM_006446:c.1929A>C p.Leu643Phe Missense 107 856 1070 11889 0.044999579 0.065386 0.035097 0.063536 0.000995 0.039505 0.052663 0.044726 0.073737 NA NA 6.22344E-08 0.001982424 0.097480937 2.68401E-66 0.182613286 0.00101387 0.953980934 1.5815E-08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21349885 A G rs11045852 NM_006446:c.733A>G p.Ile245Val Missense 5 98 108 11889 0.004542014 0.031140 0.001162 0 0.000058 0 0.000036 0.031608 0.006546 NA NA 1.50693E-41 0.000156056 0.200297177 1.71021E-07 2.51322E-06 6.53802E-30 3.64195E-53 0.267941308 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21349910 G A rs11045853 NM_006446:c.758G>A p.Arg253Gln Missense 0 1 1 11889 4.20557E-05 0.003007 0.000417 0 0 0 0.000009 0 NA NA NA 6.24496E-08 0.250603249 0.069141786 0.250382842 0.216856882 0.485157927 0.344926767 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21355598 G A rs142965323 NM_006446:c.1309G>A p.Gly437Arg Missense 0 9 9 11889 0.000378501 0 0.000120 0.000407 0 0 0.000243 0.000260 0.001007 NA NA 0.929314642 0.136347443 0.286715486 0.029490178 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21355489 C G rs59113707 NM_006446:c.1200C>G p.Phe400Leu Missense 1 15 17 11889 0.000714947 0.048698 0.001588 0 0 0 0.000135 0 0.004032 NA NA 4.7267E-119 0.154374643 0.752757811 0.114932008 0.199069739 0.007676539 0.01871324 0.000801455 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21331891 A G rs79135870 NM_006446:c.664A>G p.Ile222Val Missense 0 3 3 11889 0.000126167 0.010915 0.000238 0 0 0 0 0.000097 NA NA NA 1.45606E-27 0.936154617 0.225565393 0.857252499 0.744399749 0.30121224 0.633184496 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21325668 C T rs139257324 NM_006446:c.169C>T p.Arg57Trp Missense 0 1 1 11889 4.20557E-05 0.000065 0 0 0.000232 0 0.000036 0.000292 NA NA NA 0.290697022 0.069141786 0.852415925 0.216856882 0.309013086 0.395690978 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21329738 A G rs2306283 NM_006446:c.388A>G p.Asn130Asp Missense 3240 5374 11854 11889 0.498528051 0.776831 0.433272 0.449306 0.749014 0.449250 0.404314 0.476415 0.519657 NA 0.476000 0 0 1.96069E-88 0 0 0 0 0 NA 1.46437E-37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21329832 G T rs77271279 NM_006446.5:c.481+1G>T p.? Splice donor 1 63 65 11889 0.002733619 0.031569 0.002058 0 0 0 0.000072 0 NA NA NA 8.14337E-54 0.489661087 0.464248589 6.20123E-05 0.00050915 2.24792E-16 5.5656E-08 0.003014911 0.409180 0.108011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21358965 A G rs74064213 NM_006446.5:c.1495A>G p.Ilr499Val Missense 4 51 59 11889 0.002481285 0.026516 0.000748 0 0 0 0.000027 0 0.001007 NA NA 5.72078E-44 0.013775757 0.522937588 0.000158236 0.001069144 2.5905E-16 2.72349E-07 0.200693249 0.466074 0.138651 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21375289 C T rs71581941 NM_006446.5:c.1738C>T p.Arg580Ter Stop gained 180 419 779 11889 0.032761376 0.000885 0.003309 0.002174 0.004709 0.000848 0.001316 0.000581 0.021717 NA NA 5.97134E-55 4.90006E-45 8.45995E-06 4.96172E-31 7.03438E-38 1.0969E-173 3.65474E-82 0.003079491 0.000000 0.000000 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21283250 A G rs59310111 NM_006446.5:c.-982A>G Upstream 0 45 45 11889 0.001892506 NA NA NA NA NA NA NA NA NA NA 0.000434673 0.000204623 0.69244921 0.0014104 0.006049757 1.67139E-13 1.10818E-05 0.02072741 0.633434 0.249065 NA NA NA NA NA NA NA 0.214167 NA NA NA 0.0 0.008837 0.000000 21283369 A T rs908793915 NM_006446.5:c.-863A>T Upstream 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA NA NA NA NA 0.0 NA 0.785476 21283399 T G rs397978904 NM_006446.5:c.-833T>G Upstream 0 8 8 11889 0.000336445 NA NA NA NA NA NA NA NA NA NA 0.397348871 0.348388033 0.457828081 0.48853205 0.632405368 0.009922358 0.210276926 0.789142333 0.486435 0.745104 NA NA NA NA NA NA NA 0.069501 NA NA NA 0.0 0.004841 0.000000 21283420 G T rs774126521 NM_006446.5:c.-812G>T Upstream 0 2 2 11889 8.41114E-05 NA NA NA NA NA NA NA NA NA NA 0.683611955 0.721792214 0.162111436 0.620452899 0.535392734 0.613406402 0.855708405 0.456052837 0.172015 0.264161 NA NA NA NA NA NA NA 2.190400 NA NA NA 0.0 0.000038 0.994532 21294466 G A rs748259319 NM_006446.5:c.-43G>A UTR5 0 1 1 11889 4.20557E-05 0.000066 0 0 0 0 0 0 NA NA NA NA 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 0.637564 >1000 >1000 >1000 >1000 >1000 >1000 6.470105 NA NA NA 0.0 0.000007 0.636771 21294498 A G rs757881841 NM_006446.5:c.-11A>G UTR5 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000045 0 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.475681447 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 0.934191 >1000 1.623771 NA NA NA 0.0 0.000026 0.413954 21294538 A G rs113635866 NM_006446.5:c.30A>G p.Thr10= Synonymous 0 21 21 11889 0.000883169 0.001897 0 0 0 0 0.000027 0.000033 0.000504 NA NA 0.140715257 0.024877387 0.858113159 0.060993369 0.120234011 1.23995E-05 0.011531813 0.82446386 0.907331 0.694245 0.465522 >1000 >1000 >1000 >1000 32.732645 27.134532 4.552419 1.752320 NA NA 0.0 0.000194 0.000520 21294577 C T rs747107414 NM_006446.5:c.69C>T p.Tyr23= Synonymous 1 7 9 11889 0.000378501 0 0 0 0 0 0 0.000326 NA NA NA 0.328685294 0.28338705 0.496077234 0.41484647 0.554713891 0.00505274 0.852954162 0.711432638 0.526964 0.804144 >1000 >1000 >1000 >1000 >1000 >1000 1.160182 9.755184 NA NA NA 0.0 0.000039 0.004366 21294593 G A rs571639279 NM_006446.5:c.84+1G>A Splice donor 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000009 0.001192 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.484469313 0.000840176 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 4.647740 0.035287 0.250034 NA NA NA 1.0 . . . . . . 22.900000 0.000168 0.461856 21294611 T C rs960357759 NM_006446.5:c.84+19T>C Splicing 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000009 0 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.483654204 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 4.602069 >1000 NA NA NA NA 0.0 NA 0.785476 21294655 A G rs112297015 NM_006446.5:c.84+63A>G Intronic 4 25 33 11889 0.001387837 NA NA NA NA NA NA NA NA NA NA 0.00390014 0.002246985 0.885356227 0.009233777 0.026842985 5.15865E-10 0.000266281 0.06626427 0.828251 0.413752 NA NA NA NA NA NA NA 53.584459 NA NA NA 0.0 0.000026 0.000000 21294710 A G rs73244856 NM_006446.5:c.84+118A>G Intronic 7 3 17 11889 0.000714947 NA NA NA NA NA NA NA NA NA NA 0.073849179 0.055673083 0.752757811 0.114932008 0.199069739 2.33564E-05 0.01871324 0.317627704 0.797363 0.828419 NA NA NA NA NA NA NA 0.178929 NA NA NA 0.0 0.003996 0.000000 21317668 T C rs10444413 NM_006446.5:c.85-7916T>C Intronic 134 655 923 11889 0.038817394 NA NA NA NA NA NA NA NA NA NA 1.5946E-74 2.28348E-81 3.06615E-08 7.77596E-64 1.25956E-50 2.7747E-271 7.3277E-108 1.77263E-39 0.000000 0.000000 NA NA NA NA NA NA NA 1.460514 NA NA NA 0.0 0.026578 0.000000 21317678 A G rs140960326 NM_006446.5:c.85-7906A>G Intronic 1 13 15 11889 0.000630835 NA NA NA NA NA NA NA NA NA NA 0.106981086 0.083403579 0.695148029 0.15799923 0.256528227 8.93818E-05 0.031930571 0.387582334 0.736954 0.906113 NA NA NA NA NA NA NA 1.026249 NA NA NA 0.0 0.000615 0.901056 21317717 A G rs181701211 NM_006446.5:c.85-7867A>G Intronic 0 4 4 11889 0.000168223 NA NA NA NA NA NA NA NA NA NA 0.864713077 0.811060282 0.280173286 0.956772104 0.913105253 0.150628364 0.635463915 0.785936095 0.297678 0.459954 NA NA NA NA NA NA NA 0.490731 NA NA NA 0.0 0.000343 0.425153 21317744 C G rs544662668 NM_006446.5:c.85-7840C>G Intronic 0 2 2 11889 8.41114E-05 0 0 0 0.001278 0 0 0 NA NA NA 0.683611955 0.721792214 0.162111436 0.007336705 0.535392734 0.613406402 0.855708405 0.456052837 0.172015 0.264161 >1000 >1000 >1000 0.065803 >1000 >1000 >1000 1.856763 NA NA NA 0.0 0.000045 0.920203 21317757 A T rs1023513623 NM_006446.5:c.85-7827A>T Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA NA NA NA NA 0.0 NA 0.785476 21317776 C A rs144883775 NM_006446.5:c.85-7808C>A Intronic 0 5 5 11889 0.000210278 0.003087 0.000209 0 0 0 0 0 NA NA NA 1.79703E-06 0.59459047 0.329460312 0.805456033 0.945610533 0.075922786 0.479750534 0.91377881 0.350110 0.540585 0.068118 1.007442 >1000 >1000 >1000 >1000 >1000 1.354887 NA NA NA 0.0 0.000155 0.935570 21317791 C T rs4149032 NM_006446.5:c.85-7793C>T Intronic 1171 3846 6188 11889 0.260240558 0.672308 0.344767 0.361508 0.542707 0.271402 0.312006 0.421988 NA NA 0.328000 0 9.01434E-31 4.18217E-06 6.4734E-240 0.206022206 1.36799E-26 5.5237E-127 6.1576E-293 1.82759E-64 4.9032E-126 0.387085 0.754830 0.719875 0.479523 0.958875 0.834088 0.616701 0.818624 NA NA NA 0.0 0.317900 0.000000 21317801 G C rs74068930 NM_006446.5:c.85-7783G>A Intronic 16 323 355 11889 0.014929767 0.081043 0.005632 0.013032 0 0.001940 0.009131 0.011136 NA NA NA 5.11137E-93 1.86275E-08 0.895448499 1.20607E-24 2.03596E-12 4.29915E-07 0.023496309 2.26836E-15 0.000903 0.000001 0.184220 2.650774 1.145624 >1000 7.693813 1.635035 1.340676 1.384629 NA NA NA 0.0 0.010783 0.000085 21317809 A T rs147957349 NM_006446.5:c.85-7775A>T Intronic 0 9 9 11889 0.000378501 0.012328 0.001169 0 0 0 0.000054 0.000042 NA NA NA 7.34048E-28 0.114966577 0.496077234 0.41484647 0.554713891 0.050282455 0.265462483 0.711432638 0.526964 0.804144 0.030703 0.323801 >1000 >1000 >1000 7.029340 9.028764 0.417956 NA NA NA 0.0 0.000906 0.057662 21317861 A G rs140062938 NM_006446.5:c.85-7723A>G Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.273622 NA NA NA 0.0 0.000154 0.532547 21317922 G A rs4149034 NM_006446.5:c.85-7662G>A Intronic 1129 3897 6155 11889 0.258852721 NA NA NA NA NA NA NA NA NA NA 0 0 2.3681E-58 0 0 0 0 3.789E-291 0.000000 0.000000 NA NA NA NA NA NA NA 3.560423 NA NA NA 0.0 0.072703 0.000000 21317925 C T rs149882295 NM_006446.5:c.85-7659C>T Intronic 1 6 8 11889 0.000336445 NA NA NA NA NA NA NA NA NA NA 0.397348871 0.348388033 0.457828081 0.48853205 0.632405368 0.009922358 0.210276926 0.789142333 0.486435 0.745104 NA NA NA NA NA NA NA 0.625480 NA NA NA 0.0 0.000538 0.451952 21317983 G A rs575546531 NM_006446.5:c.85-7601G>A Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 1.095200 NA NA NA 0.0 0.000038 0.328760 21325651 C T rs769900186 NM_006446.5:c.152C>T p.Ser51Phe Missense 22 390 434 11889 0.018252166 0 0.000089 0.001829 0 0 0.000027 0.000065 0.006042 NA NA 4.93885E-35 3.42264E-37 0.002849926 4.77681E-30 6.88969E-24 4.8546E-125 1.78476E-49 1.50243E-06 0.000172 0.000000 >1000 204.144433 9.981934 >1000 >1000 678.261992 280.900651 402.917569 3.020881 NA NA 1.0 0.001000 D 0.956000 P -0.209000 T 28.300000 0.000045 0.000000 21325669 G A rs61760182 NM_006446.5:c.170G>A p.Arg57Gln Missense 0 2 2 11889 8.41114E-05 0 0.000060 0.005587 0 0 0.000063 0.001202 0.001511 NA NA 0.683611955 0.475705179 0.003092112 0.620452899 0.535392734 0.670146205 0.001882295 0.013550851 0.172015 0.264161 >1000 1.410212 0.015054 >1000 >1000 1.338692 0.069967 0.288943 0.055666 NA NA 1.0 0.002000 D 1.000000 D 0.051000 D 33.000000 0.000291 0.255618 21325709 C T rs148697674 NM_006446.5:c.210C>T p.Asp70= Synonymous 2 34 38 11889 0.001598116 0.000393 0.000090 0.000000 0.000116 0 0.000162 0.000065 0.002014 NA NA 0.046380088 0.002758365 0.798579501 0.012542816 0.014417573 3.27678E-07 0.000270524 0.848518209 0.740119 0.334604 4.066670 17.837110 >1000 13.738961 >1000 9.875093 24.566254 14.528326 0.793503 NA NA 0.0 0.000110 0.000000 21325726 G A rs564217518 NM_006446.5:c.226+1G>A Splice donor 0 1 1 11889 4.20557E-05 0 0 0 0 0 0 0.000685 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.028695163 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 >1000 0.061433 0.464191 NA NA NA 1.0 . . . . . . 24.300000 0.000091 0.970618 21325735 A G rs775575360 NM_006446.5:c.226+10A>G Splicing 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000009 0 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.482814327 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 4.555810 >1000 3.260130 NA NA NA 0.0 0.000013 0.543220 21325760 G C rs200919323 NM_006446.5:c.226+35G>C Intronic 1 30 32 11889 0.001345782 0.000070 0 0 0.000063 0 0.000010 0.026799 NA NA NA 0.010461109 0.00274431 0.903956511 0.019570486 0.030401173 2.78034E-09 4.91744E-66 0.073027117 0.847238 0.431778 19.325422 >1000 >1000 21.346775 >1000 131.175489 0.050217 0.413641 NA NA NA 0.0 0.003254 0.000091 21325808 G A rs80006762 NM_006446.5:c.226+83G>A Intronic 2 41 45 11889 0.001892506 NA NA NA NA NA NA NA NA NA NA 0.000434673 0.000204623 0.69244921 0.0014104 0.006049757 1.67139E-13 1.10818E-05 0.02072741 0.633434 0.249065 NA NA NA NA NA NA NA 0.394067 NA NA NA 0.0 0.004803 0.000001 21325814 T G rs2291073 NM_006446.5:c.226+89T>C Intronic 419 1770 2608 11889 0.109681218 NA NA NA NA NA NA NA NA NA 0.140000 3.299E-216 4.7577E-236 4.88963E-23 3.4622E-185 8.7564E-147 0 0 2.5807E-114 2.90381E-25 3.83727E-49 NA NA NA NA NA NA NA 4.257332 NA NA NA 0.0 0.025763 0.000000 21327439 C G rs371954730 NM_006446.5:c.227-72C>G Intronic 5 16 26 11889 0.001093448 NA NA NA NA NA NA NA NA NA NA 0.014072795 0.009120598 0.974505051 0.02772784 0.064257469 5.6054E-08 0.001705951 0.131043854 0.972051 0.558587 NA NA NA NA NA NA NA 0.508226 NA NA NA 0.0 0.002152 0.010983 21327463 C T rs760778288 NM_006446.5:c.227-48C>T Intronic 0 2 2 11889 8.41114E-05 0 0.000031 0 0 0 0.000019 0 NA NA NA 0.683611955 0.580928877 0.162111436 0.620452899 0.535392734 0.90444461 0.855708405 0.456052837 0.172015 0.264161 >1000 2.731766 >1000 >1000 >1000 4.374717 >1000 6.520261 NA NA NA 0.0 0.000013 0.579141 21327601 T C rs200227560 NM_006446.5:c.317T>C p.Ile106Thr Missense 0 7 7 11889 0.00029439 0 0.000179 0 0 0.000090 0.000736 0.002502 NA NA NA 0.480984292 0.960140885 0.417585159 0.576041536 0.970989585 0.123401461 1.68843E-05 0.876356013 0.443744 0.681979 >1000 1.646227 >1000 >1000 3.275088 0.400061 0.117680 0.494690 NA NA NA 0.1 0.686000 T 0.001000 B -1.002000 T 0.722000 0.000595 0.226803 21327652 - A rs34728625 NM_006446.5::c.359+23dup Splicing 1436 3671 6543 11889 0.275170326 NA NA NA NA NA NA NA NA NA NA 0 0 1.25254E-62 0 0 0 0 0 9.10501E-69 1.8674E-134 NA NA NA NA NA NA NA 989.465392 NA NA NA 0.0 0.000278 0.000000 21327690 T A rs747972522 NM_006446.5:c.359+47T>A Intronic 0 1 1 11889 4.20557E-05 0 0 0 0 0 0 0 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 >1000 >1000 6.470105 NA NA NA 0.0 0.000007 0.636771 21327701 A G rs376596782 NM_006446.5:c.359+58A>G Intronic 1 13 15 11889 0.000630835 NA NA NA NA NA NA NA NA NA NA 0.106981086 0.083403579 0.695148029 0.15799923 0.256528227 8.93818E-05 0.031930571 0.387582334 0.736954 0.906113 NA NA NA NA NA NA NA 2.736812 NA NA NA 0.0 0.000231 0.044142 21327708 T C rs878946267 NM_006446.5:c.359+65T>C Intronic 0 3 3 11889 0.000126167 NA NA NA NA NA NA NA NA NA NA 0.939152851 0.98780745 0.225565393 0.857252499 0.744399749 0.30121224 0.84713734 0.636812906 0.239556 0.369696 NA NA NA NA NA NA NA NA NA NA NA 0.0 NA 0.063510 21327740 C A rs4149036 NM_006446.5:c.359+97C>A Intronic 1636 2891 6163 11889 0.259189166 NA NA NA NA NA NA NA NA NA 0.335000 0 0 1.9371E-58 0 0 0 0 1.3966E-291 3.64492E-64 1.8936E-125 NA NA NA NA NA NA NA 5.551563 NA NA NA 0.0 0.046688 0.000000 21327798 A G rs146177262 NM_006446.5:c.359+155A>G Intronic 2 4 8 11889 0.000336445 NA NA NA NA NA NA NA NA NA NA 0.397348871 0.348388033 0.457828081 0.48853205 0.632405368 0.009922358 0.210276926 0.789142333 0.486435 0.745104 NA NA NA NA NA NA NA 0.208506 NA NA NA 0.0 0.001614 0.000084 21329629 G A rs190580693 NM_006446.5:c.360-81G>A Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.054731 NA NA NA 0.0 0.000768 0.000793 21329643 T C rs751150442 NM_006446.5:c.360-67T>C Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.218926 NA NA NA 0.0 0.000192 0.364249 21329644 A G rs182769903 NM_006446.5:c.360-66A>G Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.099517 NA NA NA 0.0 0.000423 0.033350 21329745 C T rs763429608 NM_006446.5:c.395C>T p.Ser132Leu Missense 0 2 2 11889 8.41114E-05 0 0 0.000102 0 0 0.000009 0 NA NA NA 0.683611955 0.721792214 NA 0.620452899 0.535392734 0.761927556 0.855708405 0.456052837 0.172015 0.264161 >1000 >1000 0.826306 >1000 >1000 9.331989 >1000 6.520261 NA NA NA 0.1 0.263000 T 0.002000 B -1.011000 T 1.799000 0.000013 0.579141 21329758 A G rs752011897 NM_006446.5:c.408A>G p.Thr136= Synonymous 0 4 4 11889 0.000168223 0.000131 0 0 0 0 0.000009 0 0.000504 NA NA 0.639089958 0.811060282 0.280173286 0.956772104 0.913105253 0.216863001 0.635463915 0.786225494 0.297678 0.459954 1.284722 >1000 >1000 >1000 >1000 18.669695 >1000 13.040521 0.333775 NA NA 0.0 0.000013 0.083238 21329865 A G rs764909458 NM_006446.5:c.628+60G>C Intronic 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000045 0.000033 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.478420753 0.241018335 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 0.929145 1.283622 1.302033 NA NA NA 0.0 0.000032 0.366931 21331386 A G rs561808252 NM_006446.5:c.482-124A>G Intronic 0 6 6 11889 0.000252334 NA NA NA NA NA NA NA NA NA NA 0.583231388 0.528855327 0.37497701 0.680370384 0.825295596 0.038435359 0.363585569 0.974672234 0.398494 0.614115 NA NA NA NA NA NA NA 1.300691 NA NA NA 0.0 0.000194 0.923140 21331390 TACTTG - rs4149096 NM_006446.5:c.482-112_482-107del Intronic 606 647 1859 11889 0.078181512 NA NA NA NA NA NA NA NA NA NA 4.0852E-152 4.2621E-166 2.52646E-16 2.8808E-130 3.0641E-103 0 3.6859E-220 2.08105E-80 0.000000 0.000000 NA NA NA NA NA NA NA 1.783443 NA NA NA 0.0 0.043837 0.000000 21331407 - A rs4149097 NM_006446.5:c.482-94dup Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.364750 NA NA NA 0.0 0.000115 0.770810 21331499 T C rs74541382 NM_006446.5:c.482-11T>C Splicing 0 30 30 11889 0.00126167 0.017329 0.001165 0 0 0 0.000063 0 NA NA NA 9.2869E-32 0.955448616 0.942511529 0.01478582 0.039002823 3.83773E-07 0.000590035 0.088712394 0.886694 0.470321 0.072806 1.083286 >1000 >1000 >1000 20.014792 >1000 0.863094 NA NA NA 0.0 0.001462 0.663743 21331537 T C rs923006074 NM_006446.5:c.509T>C p.Met170Thr Missense 0 2 2 11889 8.41114E-05 0 0 0 0 0 0.000027 0 0.000504 NA NA 0.683611955 0.721792214 0.162111436 0.620452899 0.535392734 0.998488841 0.855708405 0.556633461 0.172015 0.264161 >1000 >1000 >1000 >1000 >1000 3.122046 >1000 NA 0.166888 NA NA 0.5 0.059000 T 0.455000 P -0.903000 T 12.510000 NA 0.249315 21331605 C T rs376996580 NM_006446.5:c.577C>T p.Leu193Phe Missense 0 1 1 11889 4.20557E-05 0 0.000030 0 0.000348 0 0.000009 0.000065 NA NA NA 0.275448889 0.220429108 0.069141786 0.480403252 0.216856882 0.485159476 0.369975497 0.185719887 0.073170 0.110154 >1000 1.411302 >1000 0.120840 >1000 4.687024 0.647153 0.650011 NA NA NA 0.2 0.001000 D 0.022000 B -1.007000 T 10.940000 0.000065 0.774821 21331626 G A rs540112224 NM_006446.5:c.598G>A p.Ala200Thr Missense 0 3 3 11889 0.000126167 0 0 0 0 0 0 0.000195 NA NA NA 0.939152851 0.98780745 0.225565393 0.857252499 0.744399749 0.30121224 0.848222802 0.636812906 0.239556 0.369696 >1000 >1000 >1000 >1000 >1000 >1000 0.647070 4.871314 NA NA NA 0.7 0.036000 D 0.996000 D -0.323000 T 25.200000 0.000026 0.393246 21331629 A G rs556914358 NM_006446.5:c.601A>G p.Lys201Glu Missense 0 1 1 11889 4.20557E-05 0 0 0 0.000928 0 0 0.000032 NA NA NA 0.275448889 0.290697022 0.069141786 0.023438038 0.216856882 0.580922153 0.241690481 0.185719887 0.073170 0.110154 >1000 >1000 >1000 0.045320 >1000 >1000 1.294136 3.260130 NA NA NA 0.2 0.310000 T 0.022000 B -1.021000 T 1.024000 0.000013 0.543220 21331716 G C rs576844894 NM_006446.5:c.628+60G>C Intronic 0 4 4 11889 0.000168223 NA NA NA NA NA NA NA NA NA NA 0.864713077 0.811060282 0.280173286 0.956772104 0.913105253 0.150628364 0.635463915 0.785936095 0.297678 0.459954 NA NA NA NA NA NA NA 0.182434 NA NA NA 0.0 0.000922 0.002688 21331758 T C rs192182120 NM_006446.5:c.629-98T>C Intronic 0 2 2 11889 8.41114E-05 NA NA NA NA NA NA NA NA NA NA 0.683611955 0.721792214 0.162111436 0.620452899 0.535392734 0.613406402 0.855708405 0.456052837 0.172015 0.264161 NA NA NA NA NA NA NA 0.729500 NA NA NA 0.0 0.000115 0.891050 21331860 A G rs201722521 NM_006446.5:c.633A>G p.Ile211Met Missense 1 46 48 11889 0.002018673 0.000065 0 0 0.000058 0 0.000009 0.028762 0.004541 NA NA 0.000603961 0.000112476 0.651734829 0.001665962 0.004171558 6.1894E-14 6.56078E-65 0.052978408 0.592869 0.219586 30.873589 >1000 >1000 34.809984 >1000 223.975689 0.070186 0.570553 0.444544 NA NA 0.2 0.020000 D 0.721000 P -0.808000 T 0.930000 0.003538 0.004408 21331929 C T rs543278680 NM_006446.5:c.702C>T p.Tyr234= Synonymous 0 7 7 11889 0.00029439 0.000065 0.000030 0 0.000058 0 0.000009 0.000065 NA NA NA 0.706674432 0.534943403 0.417585159 0.763569345 0.721862823 0.032013873 0.519745673 0.876356013 0.443744 0.681979 4.503576 9.881471 >1000 5.077043 >1000 32.760863 4.530363 11.366400 NA NA NA 0.0 0.000026 0.011383 21331930 G A rs147421160 NM_006446.5:c.703G>A p.Val235Met Missense 0 3 3 11889 0.000126167 0.000065 0 0 0 0 0.000135 0 NA NA NA 0.665055941 0.98780745 0.225565393 0.857252499 0.744399749 0.701138331 0.84713734 0.636812906 0.239556 0.369696 1.929850 >1000 >1000 >1000 >1000 0.935943 >1000 3.251728 NA NA NA 0.8 0.000000 D 1.000000 D -0.325000 T 29.100000 0.000039 0.553045 21331970 A G rs750863994 NM_006446.5:c.727+16A>G Splicing 0 21 21 11889 0.000883169 0 0.001402 0 0 0 0 0.000033 NA NA NA 0.035291876 0.461164858 0.858113159 0.060993369 0.120234011 1.59812E-06 0.011531813 0.213945373 0.907331 0.694245 >1000 0.630093 >1000 >1000 >1000 >1000 27.134532 7.587365 NA NA NA 0.0 0.000116 0.000016 21331987 C T rs2291076 NM_006446.5:c.727+33C>T Intronic 1991 5225 9207 11889 0.387206662 0.086900 0.453111 0.428702 0.254093 0.409626 0.455513 0.476481 NA NA NA 0 8.13719E-17 0.08507494 2.48427E-57 0.020804771 3.24359E-38 2.55088E-36 0 0.000000 0.000000 4.455793 0.854551 0.903207 1.523878 0.945269 0.850045 0.812638 0.968874 NA NA NA 0.0 0.399646 0.007728 21331988 G A rs758113138 NM_006446.5:c.727+34G>A Intronic 0 6 6 11889 0.000252334 0 0 0 0 0 0 0.000033 NA NA NA 0.583231388 0.528855327 0.37497701 0.680370384 0.825295596 0.038435359 0.506053767 0.974672234 0.398494 0.614115 >1000 >1000 >1000 >1000 >1000 >1000 7.749676 38.820629 NA NA NA 0.0 0.000007 0.004383 21332040 CTTTCAATAGTC - rs564716262 NM_006446.5:c.727+90_727+101del Intronic 0 8 8 11889 0.000336445 NA NA NA NA NA NA NA NA NA NA 0.397348871 0.348388033 0.457828081 0.48853205 0.632405368 0.009922358 0.210276926 0.789142333 0.486435 0.745104 NA NA NA NA NA NA NA 2.918000 NA NA NA 0.0 0.000115 0.160161 21349762 A - rs368366728 NM_006446.5:c.728-112del Intronic 4 13 21 11889 0.000883169 NA NA NA NA NA NA NA NA NA NA 0.035291876 0.024877387 0.858113159 0.060993369 0.120234011 1.59812E-06 0.006444869 0.213945373 0.907331 0.694245 NA NA NA NA NA NA NA 2.553989 NA NA NA 0.0 0.000346 0.021046 21349799 A G rs370922939 NM_006446.5:c.728-81A>G Intronic 2 39 43 11889 0.001808394 NA NA NA NA NA NA NA NA NA NA 0.000626389 0.000304975 0.721110911 0.001928412 0.007752176 6.3771E-13 1.88202E-05 0.025147333 0.662116 0.270932 NA NA NA NA NA NA NA 0.702507 NA NA NA 0.0 0.002574 0.114131 21349863 ATAA - rs150936610 NM_006446.5:c.728-17_728-14del Intronic 6 98 110 11889 0.004626125 0.030521 0.001044 0 0.000058 0 0.000036 0.029838 NA NA NA 7.93866E-40 5.36527E-05 0.192683712 1.25817E-07 1.96324E-06 1.77869E-30 4.18323E-48 3.99243E-05 0.156212 0.016806 0.151570 4.431579 >1000 79.698940 >1000 128.183014 0.155041 0.702567 NA NA NA 0.0 0.006585 0.008470 21349938 C T rs780914697 NM_006446.5:c.786C>T p.Phe262= Synonymous 0 3 3 11889 0.000126167 0 0 0 0 0 0.000009 0.001592 NA NA NA 0.939152851 0.98780745 0.225565393 0.857252499 0.744399749 0.406547544 0.000310875 0.636812906 0.239556 0.369696 >1000 >1000 >1000 >1000 >1000 14.068127 0.079228 1.146973 NA NA NA 0.0 0.000110 0.762329 21350034 G A rs11045854 NM_006446.5:c.882G>A p.Leu294= Synonymous 6 98 110 11889 0.004626125 0.031512 0.001311 0 0.000058 0 0.000036 0.032848 0.006546 NA NA 7.06144E-42 0.000286433 0.192683712 1.25749E-07 1.96324E-06 1.75007E-30 7.75423E-56 0.293915983 0.156212 0.016806 0.146808 3.529319 >1000 79.754450 >1000 128.721942 0.140834 0.676641 0.706710 NA NA 0.0 0.006837 0.003262 21350091 T C rs772074365 NM_006446.5:c.939T>C p.Asn313= Synonymous 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 6.470105 NA NA NA 0.0 0.000007 0.636771 21350158 T C rs150346394 NM_006446.5:c.970+36T>C Intronic 2 31 35 11889 0.001471949 0.000133 0 0 0 0 0 0 NA NA NA 0.011527447 0.001506605 0.849438964 0.006748307 0.020930928 1.35179E-10 0.000156705 0.05456959 0.791681 0.379999 11.072030 >1000 >1000 >1000 >1000 >1000 >1000 75.873653 NA NA NA 0.0 0.000019 0.000000 21353482 G C rs765160169 NM_006446.5:c.1011G>C p.Leu337= Synonymous 0 1 1 11889 4.20557E-05 0 0 0 0 0 0 0.000199 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.714788627 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 >1000 0.211091 1.623771 NA NA NA 0.0 0.000026 0.413954 21353505 C T rs61760243 NM_006446.5:c.1034C>T p.Thr345Met Missense 1 81 83 11889 0.003490622 0.000066 0.000485 0.005507 0.000175 0 0.000144 0.000033 0.004536 NA NA 1.20892E-06 5.06461E-05 0.767435877 2.88768E-05 5.50801E-05 3.79995E-19 1.1866E-09 0.555240504 0.277749 0.051214 53.092370 7.201152 0.633871 19.945383 >1000 24.229659 106.498991 13.162223 0.769537 NA NA 0.3 0.052000 T 0.794000 P -0.843000 T 22.300000 0.000265 0.000000 21353557 C T rs57040246 NM_006446.5:c.1086C>T p.Tyr362Tyr Synonymous 7 118 132 11889 0.00555135 0.058851 0.001979 0 0 0 0.000234 0.000163 0.006546 NA NA 5.96069E-97 0.000513427 0.125963044 1.78517E-09 1.29722E-07 8.56319E-30 8.89E-14 0.654948617 0.098028 0.006794 0.094330 2.805115 >1000 >1000 >1000 23.764442 34.083081 1.108851 0.848052 NA NA 0.0 0.005006 0.464809 21353607 G A rs756393362 NM_006446.5:c.1135+1G>A Splice donor 0 5 5 11889 0.000210278 0 0.000090 0 0 0 0.000018 0.000393 NA NA NA 0.708908614 0.967925484 0.329460312 0.805456033 0.945610533 0.158962331 0.743318711 0.91377881 0.350110 0.540585 >1000 2.328623 >1000 >1000 >1000 11.678241 0.535579 5.419547 NA NA NA 1.0 . . . . . . 24.000000 0.000039 0.133954 21353648 A C rs12319213 NM_006446.5:c.1135+42A>C Intronic 12 216 240 11889 0.010093364 0.096157 0.003336 0 0.000060 0 0.000283 0.034065 NA NA NA 7.1913E-153 4.96569E-07 0.015880002 2.33062E-16 2.04965E-13 1.15218E-57 2.22668E-32 1.49333E-10 0.010103 0.000080 0.104968 3.025915 >1000 169.043716 >1000 35.628960 0.296295 0.839854 NA NA NA 0.0 0.012018 0.062044 21353672 G A rs12305884 NM_006446.5:c.1135+66G>A Intronic 16 180 212 11889 0.008915805 NA NA NA NA NA NA NA NA NA NA 2.49549E-17 6.97956E-19 0.027131313 6.63789E-15 6.56894E-12 3.92664E-62 6.70846E-25 2.21076E-09 0.018189 0.000254 NA NA NA NA NA NA NA 0.856309 NA NA NA 0.0 0.010412 0.123243 21353704 G A rs954077122 NM_006446.5:c.1135+98G>A Intronic 1 3 5 11889 0.000210278 NA NA NA NA NA NA NA NA NA NA 0.708908614 0.65375025 0.329460312 0.805456033 0.945610533 0.075922786 0.479750534 0.91377881 0.350110 0.540585 NA NA NA NA NA NA NA NA NA NA NA 0.0 NA 0.004355 21353743 AA - rs576961950 NM_006446.5:c.1135+139dup Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.273622 NA NA NA 0.0 0.000154 0.532547 21353746 T C rs868065827 NM_006446.5:c.1135+140T>C Intronic 0 8 8 11889 0.000336445 NA NA NA NA NA NA NA NA NA NA 0.397348871 0.348388033 0.457828081 0.48853205 0.632405368 0.009922358 0.210276926 0.789142333 0.486435 0.745104 NA NA NA NA NA NA NA NA NA NA NA 0.0 NA 0.000081 21355379 T C rs549131037 NM_006446.5:c.1136-46T>A Intronic 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000012 0.000328 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.459061618 0.313379932 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 3.513747 0.128065 0.813456 NA NA NA 0.0 0.000052 0.629219 21355396 G T rs113460407 NM_006446.5:c.1136-29G>T Intronic 5 65 75 11889 0.003154176 0.001000 0.000070 0 0 0.000052 0.000081 0.000040 NA NA NA 0.008742079 1.7522E-06 0.381173168 1.30216E-05 0.000239609 7.35345E-19 1.14156E-08 0.001152237 0.329778 0.071322 3.155527 44.801920 >1000 >1000 60.837758 39.141760 79.630401 22.165679 NA NA NA 0.0 0.000142 0.000000 21355435 C T rs747350268 NM_006446.5:c.1146C>T p.Thr382Thr Synonymous 0 1 1 11889 4.20557E-05 0.000066 0.000182 0 0 0 0.000100 0 NA NA NA NA 0.937938477 0.069141786 0.250382842 0.216856882 0.99310595 0.344926767 0.185719887 0.073170 0.110154 0.637900 0.230732 >1000 >1000 >1000 0.420794 >1000 1.083909 NA NA NA 0.0 0.000039 0.326447 21355501 C T rs537508858 NM_006446.5:c.1212C>T p.Thr404Thr Synonymous 0 2 2 11889 8.41114E-05 0.000065 0.000030 0 0 0 0 0.000586 NA NA NA 0.441856311 0.584355806 0.162111436 0.620452899 0.535392734 0.613406402 0.102407935 0.456052837 0.172015 0.264161 1.285389 2.808646 >1000 >1000 >1000 >1000 0.143559 1.300021 NA NA NA 0.0 0.000065 0.721191 21355537 G A rs11045859 NM_006446.5:c.1248G>A p.Val416Val Synonymous 11 225 247 11889 0.010387753 0.096020 0.003322 0 0.000058 0 0.000252 0.032939 0.012097 NA NA 1.378E-150 1.88126E-07 0.013890564 7.62467E-17 8.61015E-14 1.12457E-60 3.61914E-29 0.522784853 0.008722 0.000060 0.108183 3.127372 >1000 179.043322 >1000 41.290553 0.315365 0.848375 0.858705 NA NA 0.0 0.012244 0.075254 21355629 A G rs76647672 NM_006446.5:c.1331+9A>G Splicing 12 73 97 11889 0.004079401 0.000131 0.000600 0.003259 0 0.000188 0.000253 0.000098 NA NA NA 2.55754E-07 1.35436E-05 0.916390685 4.20598E-07 5.33257E-05 4.07195E-20 1.55217E-10 0.000139143 0.205958 0.028723 31.076889 6.799138 1.251865 >1000 21.743238 16.117108 41.740434 11.678789 NA NA NA 0.0 0.000349 0.000000 21355637 A G rs376419023 NM_006446.5:c.1331+17A>G Splicing 1 23 25 11889 0.001051392 0 0.000510 0 0 0 0.000100 0.000033 NA NA NA 0.016909741 0.366825047 0.952427592 0.032455165 0.072817401 3.89878E-05 0.004141069 0.144504901 0.994853 0.583270 >1000 2.062706 >1000 >1000 >1000 10.555403 32.290315 32.550837 NA NA NA 0.0 0.000032 0.000000 21358672 A - rs398048292 NM_006446.5:c.1332-128del Intronic 5 121 131 11889 0.005509294 NA NA NA NA NA NA NA NA NA NA 6.6737E-11 7.35673E-12 0.128415134 2.08678E-09 1.46776E-07 1.59153E-38 1.43565E-15 5.31389E-06 0.100122 0.007080 NA NA NA NA NA NA NA 0.758710 NA NA NA 0.0 0.007261 0.027060 21358695 - TTC rs3830216 NM_006446.5:c.1332-105_1332-104insCTT Intronic 570 625 1765 11889 0.074228278 NA NA NA NA NA NA NA NA NA NA 3.3606E-144 1.8653E-157 1.69522E-15 1.7339E-123 7.21975E-98 0 1.0203E-208 3.15821E-76 0.000000 0.000000 NA NA NA NA NA NA NA 386.404364 NA NA NA 0.0 0.000192 0.000000 21358727 C T rs61760246 NM_006446.5:c.1332-75C>T Intronic 0 17 17 11889 0.000714947 NA NA NA NA NA NA NA NA NA NA 0.073849179 0.055673083 0.752757811 0.114932008 0.199069739 2.33564E-05 0.01871324 0.317627704 0.797363 0.828419 NA NA NA NA NA NA NA 1.364662 NA NA NA 0.0 0.000524 0.523758 21358783 G C rs75563002 NM_006446.5:c.1332-19G>C Splicing 2 6 10 11889 0.000420557 0.025941 0.000968 0 0 0 0.000136 0 NA NA NA 8.15578E-63 0.300320613 0.532601512 0.35262818 0.487038404 0.166903911 0.122288629 0.641967236 0.565618 0.859585 0.016212 0.434645 >1000 >1000 >1000 3.093057 >1000 0.189560 NA NA NA 0.0 0.002219 0.000001 21358788 T C rs71581991 NM_006446.5:c.1332-14T>C Splicing 0 1 1 11889 4.20557E-05 0.000394 0.000510 0 0 0.000045 0.002564 0.000294 NA NA NA 0.317575259 0.145751489 0.069141786 0.250382842 NA 3.89889E-11 0.39171523 0.185719887 0.073170 0.110154 0.106695 0.082419 >1000 >1000 0.927497 0.016405 0.143064 0.028026 NA NA NA 0.0 0.001501 0.000000 21358922 C T rs74064211 NM_006446.5:c.1452C>T p.Pro484Pro Synonymous 8 106 122 11889 0.005130793 0.037556 0.001374 0 0.000058 0 0.000045 0.032954 0.006546 NA NA 7.26432E-52 7.74454E-05 0.15277225 1.97904E-08 4.46065E-07 1.66169E-33 6.19895E-53 0.476016422 0.121123 0.010253 0.136619 3.735208 >1000 88.495976 >1000 114.392069 0.155695 0.705099 0.783806 NA NA 0.0 0.007277 0.005970 21358927 T C NM_006446.5:c.1457T>C p.Leu486Pro Missense 0 1 1 11889 4.20557E-05 0 0 0 0.000058 0 0 0 NA NA NA 0.275448889 0.290697022 0.069141786 NA 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 0.725292 >1000 >1000 >1000 NA NA NA NA 1.0 0.000000 D 0.999000 D -1.096000 T 25.000000 NA 0.785476 21370041 A G rs80208935 NM_006446.5:c.1498-12A>G Splicing 0 4 4 11889 0.000168223 0 0 0 0.015431 0 0 0 NA NA NA 0.864713077 0.811060282 0.280173286 8.89463E-36 0.913105253 0.150628364 0.635463915 0.785936095 0.297678 0.459954 >1000 >1000 >1000 0.010902 >1000 >1000 >1000 0.171097 NA NA NA 0.0 0.000983 0.001491 21370063 A G rs368423244 NM_006446.5:c.1508A>G p.Asn503Ser Missense 0 1 1 11889 4.20557E-05 0.000065 0 0 0 0 0.000027 0 NA NA NA NA 0.290697022 0.069141786 0.250382842 0.216856882 0.356137342 0.344926767 0.185719887 0.073170 0.110154 0.643115 >1000 >1000 >1000 >1000 1.564554 >1000 3.260130 NA NA NA 0.8 0.023000 D 0.975000 D -1.078000 T 22.400000 0.000013 0.543220 21370206 G A rs375465421 NM_006446.5:c.1651G>A p.Gly551Arg Missense 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 6.470105 NA NA NA 0.8 0.001000 D 0.998000 D -0.269000 T 24.200000 0.000007 0.636771 21370222 T C NM_006446.5:c.1667T>C p.Val556Ala Missense 0 3 3 11889 0.000126167 0 0 0 0 0 0.000009 0 NA NA NA 0.939152851 0.98780745 0.225565393 0.857252499 0.744399749 0.406556759 0.84713734 0.636812906 0.239556 0.369696 >1000 >1000 >1000 >1000 >1000 14.066872 >1000 NA NA NA NA 0.2 0.071000 T 0.017000 B -1.009000 T 3.810000 NA 0.063510 21370235 TAAG - rs780849037 NM_006446.5:c.1682+4_1682+7del Nonframeshift deletion 0 1 1 11889 4.20557E-05 0 0 0 0.000058 0 0.000027 0 NA NA NA 0.275448889 0.290697022 0.069141786 NA 0.216856882 0.355868628 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 0.725377 >1000 1.561835 >1000 1.623771 NA NA NA 0.0 0.000026 0.413954 21370275 G C rs77112190 NM_006446.5:c.1682+38G>C Intronic 0 3 3 11889 0.000126167 0.002364 0.000600 0 0 0 0.000082 0 NA NA NA 2.07415E-05 0.217447893 0.225565393 0.857252499 0.744399749 0.89899083 0.84713734 0.636812906 0.239556 0.369696 0.053362 0.210384 >1000 >1000 >1000 1.536771 >1000 0.513291 NA NA NA 0.0 0.000246 0.593853 21375061 T A rs11045873 NM_006446.5:c.1683-173T>A Intronic 288 422 998 11889 0.04197157 NA NA NA NA NA NA NA NA NA NA 1.21262E-80 4.73236E-88 7.08821E-09 4.50913E-69 9.01457E-55 1.4959E-293 9.9625E-117 1.06007E-42 0.000000 0.000000 NA NA NA NA NA NA NA 0.380508 NA NA NA 0.0 0.110304 0.000000 21375063 G C rs11045874 NM_006446.5:c.1683-171G>A Intronic 290 424 1004 11889 0.042223904 NA NA NA NA NA NA NA NA NA NA 3.9218E-81 1.37917E-88 6.3033E-09 1.71603E-69 4.1957E-55 2.4643E-295 1.9412E-117 5.84867E-43 0.000000 0.000000 NA NA NA NA NA NA NA 0.368176 NA NA NA 0.0 0.114684 0.000000 21375122 A T rs76429733 NM_006446.5:c.1683-112A>C Intronic 13 147 173 11889 0.007275633 NA NA NA NA NA NA NA NA NA NA 3.1164E-14 1.68776E-15 0.057272219 2.95492E-12 8.17908E-10 9.24971E-51 2.09815E-20 9.40029E-08 0.041294 0.001259 NA NA NA NA NA NA NA 25.564417 NA NA NA 0.0 0.000285 0.000000 21375123 C T rs151256979 NM_006446.5:c.1683-111C>T Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.218926 NA NA NA 0.0 0.000192 0.364249 21375159 A G rs80094219 NM_006446.5:c.1683-75A>G Intronic 18 220 256 11889 0.010766255 NA NA NA NA NA NA NA NA NA NA 7.9251E-21 1.05071E-22 0.011694719 6.76048E-18 2.82222E-14 5.64582E-75 5.60474E-30 3.19816E-11 0.007221 0.000042 NA NA NA NA NA NA NA 13.105605 NA NA NA 0.0 0.000822 0.000000 21375243 A G rs146415464 NM_006446.5:c.1692A>G p.Gln564Gln Synonymous 0 13 13 11889 0.000546724 0.000175 0 0 0 0 0.000010 0.000039 0.000505 NA NA 0.481350093 0.125116861 0.633647331 0.217504478 0.331027025 0.000711213 0.095562328 0.705092471 0.672271 0.992242 3.116870 >1000 >1000 >1000 >1000 53.650874 14.060634 28.181642 1.082622 NA NA 0.0 0.000019 0.000009 21375307 A G rs71577817 NM_006446.5:c.1747+9A>G Splicing 35 15 85 11889 0.003574733 0.059756 0.111588 0.094198 0.016260 0.077748 0.161951 0.026406 NA NA NA 5.1477E-115 3.1255E-263 2.19094E-38 3.8475E-15 2.0942E-126 0 5.81184E-46 0.000440678 0.266106 0.047149 0.059822 0.032035 0.037949 0.219846 0.045978 0.022073 0.135376 0.409378 NA NA NA 0.0 0.008732 0.000000 21377692 T C rs139026094 NM_006446.5:c.1784T>C p.Ile595Thr Missense 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000027 0 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.356115513 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 1.564333 >1000 2.167819 NA NA NA 1.0 0.000000 D 1.000000 D -0.046000 T 23.700000 0.000019 0.471478 21377702 G A rs201556175 NM_006446.5:c.1794G>A p.Thr598Thr Synonymous 1 41 43 11889 0.001808394 0.000065 0.000209 0 0.000058 0 0.000009 0.032735 0.005539 NA NA 0.001457734 0.003840845 0.721110911 0.003557612 0.007752176 1.69679E-12 8.81334E-79 0.004024765 0.662116 0.270932 27.650359 8.658073 >1000 31.169485 >1000 201.777026 0.055244 0.444487 0.326484 NA NA 0.0 0.004069 0.000036 21377737 G A rs769518588 NM_006446.5:c.1829G>A p.Arg610his Missense 1 2 4 11889 0.000168223 0 0 0 0.000058 0 0.000045 0 NA NA NA 0.864713077 0.811060282 0.280173286 0.824124424 0.913105253 0.502255314 0.635463915 0.785936095 0.297678 0.459954 >1000 >1000 >1000 2.889392 >1000 3.748003 >1000 5.208134 NA NA NA 0.3 0.003000 D 0.905000 P -0.993000 T 20.700000 0.000032 0.226765 21377745 T C rs377350683 NM_006446.5:c.1837T>C p.Cys613Arg Missense 0 2 2 11889 8.41114E-05 0 0.000180 0 0 0 0 0 NA NA NA 0.683611955 0.848312245 0.162111436 0.620452899 0.535392734 0.613406402 0.855708405 0.456052837 0.172015 0.264161 >1000 0.466819 >1000 >1000 >1000 >1000 >1000 3.247543 NA NA NA 1.0 0.000000 D 1.000000 D 0.514000 D 24.800000 0.000026 0.814543 21377749 G T rs773195162 NM_006446.5:c.1841G>T p.Arg614Met Missense 0 4 4 11889 0.000168223 0.000066 0 0 0 0 0 0 NA NA NA 0.856989755 0.811060282 0.280173286 0.956772104 0.913105253 0.150628364 0.635463915 0.785936095 0.297678 0.459954 2.561696 >1000 >1000 >1000 >1000 >1000 >1000 25.880420 NA NA NA 0.8 0.022000 D 1.000000 D -0.349000 T 25.800000 0.000007 0.046168 21377773 C T rs368052440 NM_006446.5:c.1865C>T p.Ser622Leu Missense 4 17 25 11889 0.001051392 0.000132 0 0 0 0.000045 0.000054 0.000033 0.003021 NA NA 0.059128787 0.011144983 0.952427592 0.032455165 0.097079801 5.00703E-06 0.004204198 0.056325274 0.994853 0.583270 7.981114 >1000 >1000 >1000 23.374552 19.337546 31.451307 18.065155 0.348028 NA NA 0.6 0.067000 T 0.671000 P -1.051000 T 22.300000 0.000058 0.000000 21377774 G A rs200994482 NM_006446.5:c.1865+1G>A Splice donor 2 37 41 11889 0.001724283 0.000132 0 0 0.002735 0 0.000027 0.000201 NA NA NA 0.004185036 0.000454587 0.751064973 0.295297172 0.009934908 3.34798E-11 0.001013382 0.030513927 0.692196 0.294763 13.051083 >1000 >1000 0.630488 >1000 63.284567 8.586340 5.671983 NA NA NA 1.0 . . . . . . 23.500000 0.000304 0.000000 21377806 T C rs142284263 NM_006446.5:c.1865+33T>C Intronic 12 62 86 11889 0.003616789 0.009203 0.000607 0.000107 0 0 0.000101 0.000037 NA NA NA 1.63028E-05 8.80663E-05 0.333627111 2.34014E-06 3.80261E-05 3.19457E-21 5.97932E-10 0.000400305 0.260473 0.045240 0.392986 5.959330 33.809662 >1000 >1000 35.710083 98.948048 4.334598 NA NA NA 0.0 0.000834 0.000000 21377827 A - rs66517488 NM_006446.5:c.1865+59del Intronic 0 1 1 11889 4.20557E-05 NA NA NA NA NA NA NA NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.580922153 0.344926767 0.185719887 0.073170 0.110154 NA NA NA NA NA NA NA 0.109463 NA NA NA 0.0 0.000384 0.050094 21391903 A G rs371302553 NM_006446.5:c.1866-10A>G Splicing 3 6 12 11889 0.000504668 0.000066 0.000212 0 0 0 0.000155 0.000034 NA NA NA 0.311483204 0.603212031 0.60124357 0.255365873 0.376281603 0.101527705 0.115394524 0.523834679 0.638118 0.961113 7.615437 2.376117 >1000 >1000 >1000 3.259499 14.847330 4.106332 NA NA NA 0.0 0.000123 0.018191 21391965 TATAT - rs759508960 NM_006446.5:c.1918_1922del p.Tyr640fs Frameshift deletion 1 1 3 11889 0.000126167 0 0.000030 0 0 0 0.000055 0 NA NA NA 0.939152851 0.839058576 0.225565393 0.857252499 0.744399749 0.874889041 0.84713734 0.636812906 0.239556 0.369696 >1000 4.212969 >1000 >1000 >1000 2.314410 >1000 19.410315 NA NA NA 0.0 0.000007 0.144287 21391966 A G rs750794870 NM_006446.5:c.1919A>G p.Tyr640Cys Missense 0 1 1 11889 4.20557E-05 0 0 0 0 0 0.000009 0 NA NA NA 0.275448889 0.290697022 0.069141786 0.250382842 0.216856882 0.484097241 0.344926767 0.185719887 0.073170 0.110154 >1000 >1000 >1000 >1000 >1000 4.626796 >1000 6.470105 NA NA NA 0.2 0.185000 T 0.001000 B -0.946000 T 4.343000 0.000007 0.636771 21392087 C A rs200467000 NM_006446.5:c.2040C>A p.Val680Val Synonymous 0 1 1 11889 4.20557E-05 0 0 0 0.001565 0 0.000018 0.000065 NA NA NA 0.275448889 0.290697022 0.069141786 0.000742958 0.216856882 0.412774836 0.370382922 0.185719887 0.073170 0.110154 >1000 >1000 >1000 0.026866 >1000 2.336777 0.646816 0.406335 NA NA NA 0.0 0.000104 0.861272 21392142 T G rs113870212 NM_006446.5:c.*19T>G UTR3 2 33 37 11889 0.00155606 0.000982 0.000060 0 0 0 0.000054 0.000032 NA NA NA 0.469437966 0.002321097 0.815146459 0.004932817 0.016324402 2.99321E-09 0.000187756 0.044948826 0.756885 0.349080 1.585107 26.101342 >1000 >1000 >1000 28.805795 47.892481 13.368215 NA NA NA 0.0 0.000116 0.000000 21392169 T G rs71581985 NM_006446.5:c.*46T>G UTR3 5 82 92 11889 0.003869123 0.001705 0.002327 0.008247 0 0.000719 0.005569 0.015611 NA NA NA 0.022916094 0.116788566 0.33392313 9.17644E-07 0.002282362 0.026649849 2.57871E-18 0.000224929 0.229131 0.035307 2.269693 1.662730 0.469167 >1000 5.379049 0.694802 0.247849 0.746791 NA NA NA 0.0 0.005181 0.051857 21392205 C T rs72655363 NM_006446.5:c.*82C>T UTR3 2 16 20 11889 0.000841114 NA NA NA NA NA NA NA NA NA NA 0.042434203 0.030418668 0.832895104 0.071440313 0.136345485 3.12408E-06 0.00841066 0.236088815 0.881073 0.725402 NA NA NA NA NA NA NA 0.456086 NA NA NA 0.0 0.001844 0.008471 21392229 C T rs866003475 NM_006446.5:c.*106C>T UTR3 5 4 14 11889 0.00058878 NA NA NA NA NA NA NA NA NA NA 0.1288248 0.102132681 0.664919748 0.185342656 0.291349044 0.000174917 0.041729064 0.428348462 0.705185 0.948045 NA NA NA NA NA NA NA NA NA NA NA 0.0 NA 0.000000 21392244 G C rs74064260 NM_006446.5:c.*121G>C UTR3 4 3 11 11889 0.000462612 NA NA NA NA NA NA NA NA NA NA 0.225546443 0.188044472 0.567604065 0.299982909 0.427954634 0.001313777 0.093382497 0.579719885 0.602612 0.911807 NA NA NA NA NA NA NA 0.344027 NA NA NA 0.0 0.001345 0.005450